ClinVar Miner

Submissions for variant NM_005245.4(FAT1):c.8991G>A (p.Thr2997=)

gnomAD frequency: 0.00071  dbSNP: rs138496810
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518083 SCV001726722 benign not provided 2023-06-23 criteria provided, single submitter clinical testing
Mendelics RCV002246399 SCV002519308 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
O&I group, Department of Genetics, University Medical Center of Groningen RCV001849193 SCV001960848 uncertain significance Autosomal dominant cerebellar ataxia 2021-07-22 no assertion criteria provided research

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